ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.407A>G (p.Gln136Arg)

gnomAD frequency: 0.00002  dbSNP: rs569816696
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178736 SCV000230877 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798846 SCV000938481 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 136 of the SGCG protein (p.Gln136Arg). This variant is present in population databases (rs569816696, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 197646). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000798846 SCV003819953 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-03-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000798846 SCV002086097 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2019-11-11 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.